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MLH1 c.2029A>C ;(p.S677R)
Variant ID: 3-37090434-A-C
NM_000249.3(
MLH1
):c.2029A>C;(p.S677R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.
Genome Medicine
Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T
Publication Date: 2021-11-08
Variant appearance in text: MLH1: S677R
PubMed Link:
34749812
Variant Present in the following documents:
13073_2021_975_MOESM2_ESM.xlsx, sheet 6
13073_2021_975_MOESM2_ESM.xlsx, sheet 5
13073_2021_975_MOESM2_ESM.xlsx, sheet 16
13073_2021_975_MOESM2_ESM.xlsx, sheet 12
View BVdb publication page
The Genomic Landscape of Serrated Lesion of the Colorectum: Similarities and Differences With Tubular and Tubulovillous Adenomas.
Frontiers In Oncology
Tornillo, Luigi L; Lehmann, Frank Serge FS; Garofoli, Andrea A; Paradiso, Viola V; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S
Publication Date: 2021
Variant appearance in text: MLH1: 2029A>C; Ser677Arg
PubMed Link:
34712603
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: HNPCC2: S677R
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page